Rare Disease Day 2014

Today, 28th February 2014, is Rare Disease Day.

There are over 6,000 rare diseases and these effect 1 in 20 of the population.  That's 3,500,000 people here in the UK.

Very often there is no treatment for these conditions, and sadly little or no research into developing a cure or an effective treatment.

Most of the conditions are chronic and debilitating, and people with them live lives which are hugely impacted by the effects of these conditions.  (See my blog 21st September 2013 for an account of a "normal" day in my life.)

I have Dermatomyositis and Inclusion Body Myositis, both of which are rare diseases.  I was diagnosed with these in 1983 and 2000 respectively.  In addition to these, and as a consequence of them and the medication I am required to take, I also have:

Raynauds Phenomenon

Limited Cutaneous Systemic Sclerosis Overlap

Steroid Induced Diabetes

Pulmonary Fibrosis (NSIP Stable)

Hypertension

(Acute on) Chronic Lipodermatosclerosis

Lymphoedemarosis

Since 2008, I have been unable to stand or walk, and am now in a wheelchair full-time.  Prior to this I had great difficulty walking and had to use a walking stick, but could only walk very short distances, due to the weakness in my legs.

I use a BiPap machine, which helps me breath properly at night, so that I can maintain the proper levels of oxygen in my blood, and circulate this round the body.

Doing everyday tasks is always a struggle, due to the weakness in my arms, legs, shoulders and torso.  This means that doing even basic tasks, like making a cup of tea, can tire me out, and I have a constant struggle with fatigue.

I have carers who come to me three times a day to help me with tasks that most people wouldn't think twice about doing.  Without there help my life would be impossible.

I am supported at home by my mother - who is 82 - who does so very much for me.  Words cannot express how grateful I am for her help.

And yet despite all this, people look at me and say how well I look.  I have even had a doctor ask me why I'm in a wheelchair as I don't look ill.

Diseases, whether they are rare or not, aren't always obvious to a person looking in from the outside.  Likewise, a disability isn't always obvious, and just because I'm in a wheelchair people shouldn't jump to conclusions.

It isn't always obvious who has a rare disease.  Very often people try to hide it, to avoid having to explain a condition nobody else has heard of or understands.  Sometimes they will hide it, as people don't want to hear about them being ill, and for fear of being shunned by friends, and socially excluded.

Next time you're in a crowd, or with a group, try and see if you can spot who has the rare disease.